Literature DB >> 21132570

A child with mental retardation and asymmetrical hypertrophy of limbs.

Sidharth Kumar Sethi1, Dinesh Yadav, Parvesh Garg, Jyoti Chawla, Deepak Goyal.   

Abstract

A 5-year-old male child presented with progressively increasing asymmetrical overgrowth of limbs, hyperpigmentation on the right half of the body, and mental retardation since 9 months of age.

Entities:  

Mesh：

Year:  2010        PMID： 21132570     DOI： 10.1007/s00431-010-1346-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  10 in total

1.  A newly recognized hamartomatous syndrome.

Authors:  M M Cohen; P W Hayden
Journal:  Birth Defects Orig Artic Ser       Date:  1979

Review 2.  Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.

Authors:  Joyce T Turner; M Michael Cohen; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2004-10-01       Impact factor: 2.802

Review 3.  The challenges of Proteus syndrome: diagnosis and management.

Authors:  Leslie Biesecker
Journal:  Eur J Hum Genet       Date:  2006-08-02       Impact factor: 4.246

4.  Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.

Authors:  A Loffeld; N J McLellan; T Cole; S J Payne; D Fricker; C Moss
Journal:  Br J Dermatol       Date:  2006-06       Impact factor: 9.302

5.  The multifaceted challenges of Proteus syndrome.

Authors:  L G Biesecker
Journal:  JAMA       Date:  2001-05-02       Impact factor: 56.272

6.  Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

Authors:  R Happle
Journal:  J Am Acad Dermatol       Date:  1987-04       Impact factor: 11.527

Review 7.  Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Authors:  L G Biesecker; R Happle; J B Mulliken; R Weksberg; J M Graham; D L Viljoen; M M Cohen
Journal:  Am J Med Genet       Date:  1999-06-11

8.  The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.

Authors:  H R Wiedemann; G R Burgio; P Aldenhoff; J Kunze; H J Kaufmann; E Schirg
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183

9.  Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

Authors:  I Thiffault; C E Schwartz; V Der Kaloustian; W D Foulkes
Journal:  Am J Med Genet A       Date:  2004-10-01       Impact factor: 2.802

10.  Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

Authors:  Frédéric Caux; Henri Plauchu; Frédéric Chibon; Laurence Faivre; Olivier Fain; Pierre Vabres; Françoise Bonnet; Zied Ben Selma; Liliane Laroche; Marion Gérard; Michel Longy
Journal:  Eur J Hum Genet       Date:  2007-03-28       Impact factor: 4.246
  10 in total
  1 in total

1.  Proteus syndrome.

Authors:  Ritha de Cássia Capelato Rocha; Mariani Paulino Soriano Estrella; Danielle Mechereffe do Amaral; Angela Marques Barbosa; Marilda Aparecida Milanez Morgado de Abreu
Journal:  An Bras Dermatol       Date:  2017 Sep-Oct       Impact factor: 1.896
  1 in total

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